Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing Utility and limitations》.pdf

Gene 516 (2013) 93–100 Contents lists available at SciVerse ScienceDirect Gene jour nal homepage: /locate/gene Methods Paper Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: Utility and limitations Xiao-Ping Qi a,⁎, 1, Zhen-Fang Du b, 1, Ju-Ming Ma a, 1, Xiao-Ling Chen b, Qing Zhang c, Jun Fei a, Xiao-Ming Wei c, Dong Chen d, Hai-Ping Ke e, Xuan-Zhu Liu c, Feng Li a, Zhen-Guang Chen a, Zheng Su c, Hang-Yang Jin a, Wen-Ting Liu b, Yan Zhao b, Hu-Ling Jiang b, Zhang-Zhang Lan c, Peng-Fei Li c, Ming-Yan Fang c, Wei Dong c,⁎⁎, Xian-Ning Zhang b,⁎⁎⁎ a Department of Urologic Surgery, the 117th PLA Hospital, Hangzhou, Zhejiang Province, China b Department of Cell Biology and Medical Genetics, National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China c BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen, Guangdong Province, China d Department of Evolution, Ecology and Behavior, University of Liverpool, Liverpool, UK e Department of Biology, Ningbo College of Health Sciences, Ningbo, Zhejiang Province, China a r t i c l e i n f o a b s t r a c t Article history: Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated Accepted 3 December 2012 by genetic and allelic heterogeneity, large multi-exon genes, and duplication sequences of PKD1. Recently, Available online 21 December 2012 targeted resequencing by pooling long-range polymerase chain reaction (LR-PCR) amplicons has been used i